A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17413465



Internal ID22471335
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:81546418..81550513hg38UCSC Ensembl
chr3:81595569..81599664hg19UCSC Ensembl
Cytoband3p12.2
Allele length
AssemblyAllele length
hg384096
hg194096
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5894011
Supporting Variants
Samples
Known GenesGBE1
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nssv17413465
Frequency
Sample Size914
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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